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CTSC Gene Haim-Munk syndrome NGS Genetic Test

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CTSC Gene Haim-Munk syndrome NGS Genetic Test

Short Name: Haim-Munk Syndrome NGS Test

Also known as: CTSC gene-related disorder, Haim-Munk syndrome genetic test

CTSC Gene Haim-Munk syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.

NGS Genetic TestPediatric and Adult🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of the CTSC Gene Haim-Munk Syndrome NGS Genetic Test is to identify mutations in the CTSC gene that cause Haim-Munk Syndrome. This confirms diagnosis, differentiates it from similar disorders, guides treatment strategies, and provides information for family risk assessment and genetic counseling.

Test Code
4955
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with Haim-Munk Syndrome.

Method: Venipuncture or FTA card

Step 2

Laboratory Analysis

Standard blood draw or FTA card sample collection by a trained phlebotomist.

Step 3

Report Delivery

Sample is processed for DNA extraction and shipped to the laboratory under controlled conditions.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended before testing.
2
During the Test:The test involves NGS sequencing of the CTSC gene from the provided sample.
3
After the Test:Results are analyzed and reported with genetic counseling support.

About This Test

Who Should Get This Test

The purpose of the CTSC Gene Haim-Munk Syndrome NGS Genetic Test is to identify mutations in the CTSC gene that cause Haim-Munk Syndrome. This confirms diagnosis, differentiates it from similar disorders, guides treatment strategies, and provides information for family risk assessment and genetic counseling.

How to Prepare

  • Ensure proper identification and labeling of the sample
  • For blood samples, use EDTA tubes or FTA cards as specified
  • Avoid hemolysis or contamination during collection

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Genetic testing via NGS for CTSC gene mutations is essential for confirming Haim-Munk Syndrome diagnosis, guiding management, and informing family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or FTA card
Sample Rejection Criteria:
  • Hemolyzed or improperly labeled samples
  • Insufficient sample volume
  • Samples collected without proper consent or documentation

Understanding Your Results

Results from the CTSC Gene Haim-Munk Syndrome NGS Genetic Test indicate the presence or absence of pathogenic mutations in the CTSC gene. Interpretation should be done by a qualified geneticist in conjunction with clinical evaluation.
Normal result: No pathogenic variants detected in the CTSC gene, reducing likelihood of Haim-Munk Syndrome but not excluding other causes.
Abnormal result: Pathogenic variant(s) identified, confirming genetic basis for Haim-Munk Syndrome and guiding management.
Variant of uncertain significance: Further testing or family studies may be recommended for clarification.
⚠️ When to Consult a Doctor:

Consult a doctor if you or your child exhibit symptoms such as thickened skin, nail abnormalities, recurrent infections, or joint issues, especially with a family history of genetic disorders.

Limitations

  • ⚠May not detect all types of genetic variants (e.g., large deletions/duplications without additional testing)
  • ⚠Results require correlation with clinical findings for accurate diagnosis
  • ⚠Genetic variants of uncertain significance may be identified, necessitating further evaluation

Risks & Considerations

  • ●Minimal risks associated with blood draw, such as bruising or infection
  • ●Psychological impact of genetic results, addressed through counseling

Frequently Asked Questions

What is Haim-Munk Syndrome?
Haim-Munk Syndrome is a rare genetic disorder affecting skin, nails, and bones, caused by mutations in the CTSC gene.
What causes Haim-Munk Syndrome?
It is caused by autosomal recessive mutations in the CTSC gene, which encodes the cathepsin C enzyme.
What are the common symptoms?
Symptoms include thickened skin, abnormal nails, recurrent infections, loose teeth, joint pain, and delayed growth.
How is Haim-Munk Syndrome diagnosed?
Diagnosis involves clinical examination and genetic testing, such as NGS sequencing of the CTSC gene.
What is the CTSC Gene NGS Genetic Test?
It is a Next-Generation Sequencing test that analyzes the CTSC gene for mutations associated with Haim-Munk Syndrome.
What is the cost of the test?
The test costs INR 20,000, including sample collection, DNA extraction, sequencing, and analysis.
How long does it take to get results?
Results are typically delivered within 3 to 4 weeks after sample receipt.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across many cities in India.
What sample types are accepted?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted.
Is fasting required for the test?
No, fasting is not required for this genetic test.
Who should consider this test?
Individuals with symptoms of Haim-Munk Syndrome or a family history of the disorder should consider testing.
What do the test results mean?
Results indicate the presence or absence of CTSC gene mutations; interpretation should be done by a genetic specialist.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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